Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59024172G>C , CM000682.2:g.59024172G>C | GRCh38 |
| NC_000020.10:g.57599227G>C , CM000682.1:g.57599227G>C | GRCh37 |
| NC_000020.9:g.57032622G>C | NCBI36 |
| NG_023424.2:g.9919G>C , LRG_581:g.9919G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030773.4:c.745G>C MANE Select | NP_110400.1:p.Asp249His |
| ENST00000217133.2:c.745G>C MANE Select | ENSP00000217133.1:p.Asp249His |
| NM_030773.3:c.745G>C , LRG_581t1:c.745G>C | NP_110400.1:p.Asp249His |
| ENST00000217133.1:c.745G>C | ENSP00000217133.1:p.Asp249His |
| XM_017028085.1:c.679G>C | XP_016883574.1:p.Asp227His |